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Gene

SIM1

SIM bHLH transcription factor 1

Summary

Cytogenetic location
6q16.3
Coordinates
Chromosome 6: 100,385,009–100,464,921 (GRCh38)
Exons
12 exons across 79.9 kb
Protein
766 amino acids
Also known as
bHLHe14
MANE Select transcript
ENST00000369208.8NM_005068.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Monogenic Obesity (Leptin-Melanocortin Pathway)

    • Inherited obesity (leptin-melanocortin pathway)

      Early-onset severe obesity caused by single-gene defects in appetite regulation, including MC4R, SIM1 (dominant), and LEP, LEPR, POMC and PCSK1 (recessive) deficiencies.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Targeted medicines are available for some forms: metreleptin for leptin deficiency, and setmelanotide for POMC, PCSK1 and LEPR deficiency.

How SIM1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 6, with a bracket where SIM1 sits. SIM1 and 2 genes near it on chromosome 6, from 99,924,965 to 100,924,964.Chromosome 66q16.3p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12q13q14.1q14.2q14.3q15q16.1q16.2q16.3q21q22.1q22.2q22.31q22.32q22.33q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q26q27100 Mb100.2 Mb100.4 Mb100.6 Mb100.8 MbMCHR2: 99,918,501–99,994,247, reverse strandMCHR2SIM1: 100,385,009–100,464,921, reverse strandSIM1ASCC3: 100,508,194–100,881,412, reverse strandASCC3Diagram of SIM1: 12 exons on the reverse strand of chromosome 6Exon 7: 1 known disease-causing siteExon 4: 1 known disease-causing siteExon 12: 100,385,009–100,391,091, 6,083 basesExon 11: 100,393,487–100,393,889, 403 basesExon 10: 100,420,790–100,420,958, 169 basesExon 9: 100,447,268–100,447,415, 148 basesExon 8: 100,448,146–100,448,252, 107 basesExon 7: 100,448,479–100,448,678, 200 basesExon 6: 100,449,363–100,449,448, 86 basesExon 5: 100,449,591–100,449,699, 109 basesExon 4: 100,450,267–100,450,356, 90 basesExon 3: 100,453,762–100,453,844, 83 basesExon 2: 100,463,294–100,463,935, 642 basesExon 1: 100,464,614–100,464,921, 308 bases1210515′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 8.4 kb of the gene's 79.9 kb; 2,301 of those bases code for the protein.

How a genome test reads SIM1

2

positions in SIM1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 79.9 kb of SIM1, introns included, not only the 8.4 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). SIM1 gene: SIM bHLH transcription factor 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/sim1

Vancouver

Dante Labs. SIM1 gene: SIM bHLH transcription factor 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/sim1

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